Güven Ayla
J Pediatr Endocrinol Metab. 2017 Feb 1;30(2):159-165. doi: 10.1515/jpem-2016-0039.
Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given.
Data were obtained from patients' medical records. All patients underwent hormonal analyses and four of them underwent oral glucose tolerance test (OGTT).
They all had mild hypercalcemia. Three of them had overt hypothyroidism while subclinical hypothyroidism was detected in three patients. Four patients had thyroid hypoplasia and one had thyroid agenesis. Growth hormone deficiency (GHD) was determined in one patient. Impaired glucose tolerance (IGT) was found in three adolescents. All adolescents had early-onset puberty. The follow-up duration was 5.7±2.1 years. The mean growth velocity (GV) was 12.9±7.2 cm and 7.6±2 cm at the end of the first and second years of therapy, respectively. All patients had neurodevelopment retardation and were continuing to special education.
Thyroid hypoplasia is common and agenesis can be seen in patients with WBS; therefore, thyroid hormones should be measured in the newborn period and annually. GHD should be kept in mind in patients with decreased GV. IGT might be detected in patients with WBS even in adolescence.
本文报道了7例（6例男性）威廉斯-贝伦综合征（WBS）患者的内分泌评估及长期随访情况。
数据来源于患者的病历记录。所有患者均接受了激素分析，其中4例进行了口服葡萄糖耐量试验（OGTT）。
他们均有轻度高钙血症。3例有明显的甲状腺功能减退，3例检测出亚临床甲状腺功能减退。4例患者甲状腺发育不全，1例甲状腺缺如。1例患者存在生长激素缺乏（GHD）。3名青少年存在糖耐量受损（IGT）。所有青少年均青春期早熟。随访时间为5.7±2.1年。治疗第一年和第二年结束时，平均生长速度（GV）分别为12.9±7.2厘米和7.6±2厘米。所有患者均有神经发育迟缓，目前仍在接受特殊教育。
甲状腺发育不全在WBS患者中常见，甲状腺缺如也可见；因此，应在新生儿期及每年检测甲状腺激素。生长速度降低的WBS患者应考虑GHD。即使在青少年期，WBS患者也可能检测出IGT。
